毛囊角化病ATP2A2基因突变的检测

Mutations in ATP2A2 gene in patients with Darier disease

目的 :检测1个家系及1例散发毛囊角化病患者ATP2A2基因突变情况。方法 :提取家系中2例患者、5例正常人及1例散发患者的外周血DNA,采用聚合酶链反应(PCR)对其ATP2A2基因进行扩增,并对其扩增产物进行测序,检测该基因突变点。对照组为100例无血缘关系的健康人。结果:发现1个新的错义突变(R603I)和1个已报道的错义突变(R131Q)。结论:该研究发现毛囊角化病患者存在ATP2A2基因的突变,这些突变可能影响肌浆/内质网钙ATP酶(SERCA)2的结构和功能,使表皮细胞的连接和分化出现异常,最终导致疾病的发生。

Objective： To detect mutations of ATP2A2 gene in one family and one sporadic patient with Darier disease （DD）. Methods： Polymerase chain reaction （PCR） and direct sequencing were performed to identify the mutations of ATP2A2 gene. Results： One novel missense mutation（R603I） and one reported missense mutation （R131Q） were identified. Conclusions： Mutations in ATP2A2 of DD patients may affect the structure and function of SERCA2, hence the connection and differentiation of epidermal cells are involved, eventually lead to the occurrence of the disease.